Fusion of ZMYND8 and RELA genes in acute erythroid leukemia

PLoS One. 2013 May 7;8(5):e63663. doi: 10.1371/journal.pone.0063663. Print 2013.


Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT-PCR and direct sequencing verified the presence of an in frame ZMYND8-RELA chimeric transcript. Fluorescence in situ hybridization showed that the ZMYND8-RELA was located on the p12 band of der(11); therefore a cytogenetically invisible pericentric inversion in chromosome 11 must have taken place besides the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Artificial, Bacterial / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Leukemia, Erythroblastic, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Oncogene Proteins, Fusion / chemistry
  • Oncogene Proteins, Fusion / genetics*
  • Protein Structure, Tertiary
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factor RelA / chemistry
  • Transcription Factor RelA / genetics*


  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • RELA protein, human
  • Transcription Factor RelA
  • ZMYND8-RELA fusion protein, human

Grant support

The study was supported by grants from the Norwegian Cancer Society and the South-Eastern Norway Regional Health Authority. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.